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Sitosterol xanthomatosis


*Corresponding author, Unidad de Docencia Pregrado, Dermatología, Pabellón de Gobierno, Hospital Universitario Virgen del Rocío, Avda. Manuel Siurot s/n. 41013, Seville, Spain, tel. +34 630 034 029; fax +34 955 01 3473; E-mail:


Background  Sitosterolaemia is a lipid disorder in which plasma plant sterol levels are extremely elevated. Sitosterolaemia is clinically characterized by tuberous and tendon xanthomas, premature vascular disease and arthritis.

Objective  To report a case of sitosterolaemia diagnosed by cutaneous manifestations and to review this rare disease.

Methods  We report the case of a 60-year-old woman who presented with cutaneous xanthomas, arterial hypertension and polyarthralgias. The patient had had hypercholesterolaemia for many years without reduction of serum cholesterol, despite treatment with fenofibrate.

Results  Ezetimibe therapy was started, decreasing sitosterol plasmatic levels and tuberous xanthomas after 3 months of treatment.

Conclusion  It is important to detect levels of sitosterol in plasma in patients with premature vascular disease, presence of xanthomas, and uncontrolled hypercholesterolaemia. Ezetimibe therapy is effective.